ITPRID1

Summary

ITPRID1 (ITPR interacting domain containing 1, HGNC:27363) is a protein-coding gene on chromosome 7p14.3, encoding Protein ITPRID1 (Q6ZRS4).

Predicted to enable signaling receptor binding activity.

Source: NCBI Gene 223075 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 165 total
• MANE Select transcript: NM_001257967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27363
Approved symbol	ITPRID1
Name	ITPR interacting domain containing 1
Location	7p14.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38344
Ensembl gene	ENSG00000180347
Ensembl biotype	protein_coding
Entrez	223075

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000319386, ENST00000407970, ENST00000409210, ENST00000409717, ENST00000454513, ENST00000456011, ENST00000463693, ENST00000471139, ENST00000482748, ENST00000615280, ENST00000888409, ENST00000888410

RefSeq mRNA: 3 — MANE Select: NM_001257967 NM_001257967, NM_001257968, NM_194300

CCDS: CCDS5435

Canonical transcript exons

ENST00000615280 — 15 exons

Exon	Start	End
ENSE00001368449	31651142	31651269
ENSE00001370191	31574540	31574742
ENSE00001383440	31651939	31652050
ENSE00001383865	31583134	31583191
ENSE00001385731	31642176	31642258
ENSE00001387633	31642682	31643953
ENSE00001557705	31577863	31578434
ENSE00001755226	31514090	31514120
ENSE00003468692	31554858	31554901
ENSE00003470813	31553002	31553187
ENSE00003618052	31554475	31554523
ENSE00003633592	31572102	31572188
ENSE00003656195	31569758	31569809
ENSE00003731307	31549426	31549499
ENSE00003921812	31652518	31656504

Expression profiles

Bgee: expression breadth ubiquitous, 104 present calls, max score 74.53.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0754 / max 12.3169, expressed in 27 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78044	0.0391	16
78042	0.0226	9
78043	0.0137	10

Top tissues by expression

220 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.53	gold quality
ganglionic eminence	UBERON:0004023	73.33	gold quality
buccal mucosa cell	CL:0002336	72.64	gold quality
secondary oocyte	CL:0000655	70.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.56	gold quality
skin of leg	UBERON:0001511	66.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.33	gold quality
minor salivary gland	UBERON:0001830	63.48	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	63.45	gold quality
saliva-secreting gland	UBERON:0001044	62.87	gold quality
cortical plate	UBERON:0005343	62.13	gold quality
skin of abdomen	UBERON:0001416	61.84	gold quality
zone of skin	UBERON:0000014	61.79	gold quality
mouth mucosa	UBERON:0003729	61.62	gold quality
pancreatic ductal cell	CL:0002079	60.88	silver quality
colonic epithelium	UBERON:0000397	60.34	silver quality
biceps brachii	UBERON:0001507	59.40	gold quality
substantia nigra	UBERON:0002038	58.85	gold quality
upper leg skin	UBERON:0004262	58.52	gold quality
vena cava	UBERON:0004087	58.26	gold quality
mucosa of transverse colon	UBERON:0004991	58.26	gold quality
nasal cavity epithelium	UBERON:0005384	57.87	gold quality
nasal cavity mucosa	UBERON:0001826	57.78	gold quality
midbrain	UBERON:0001891	57.13	gold quality
endothelial cell	CL:0000115	56.82	gold quality
gingival epithelium	UBERON:0001949	56.46	gold quality
quadriceps femoris	UBERON:0001377	56.21	gold quality
myocardium	UBERON:0002349	55.98	gold quality
gingiva	UBERON:0001828	55.54	gold quality
vastus lateralis	UBERON:0001379	55.45	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting ITPRID1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-320A-5P	98.88	66.75	1248
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-502-5P	98.77	66.51	906
HSA-MIR-496	98.66	69.80	931
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-4712-3P	98.52	65.39	822
HSA-MIR-1267	98.24	69.05	837
HSA-MIR-4436A	98.05	64.83	1140

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	itprid1	ENSDARG00000086805
mus_musculus	Itprid1	ENSMUSG00000037973
rattus_norvegicus	Itprid1	ENSRNOG00000012165

Paralogs (2): TESPA1 (ENSG00000135426), ITPRID2 (ENSG00000138434)

Protein

Protein identifiers

Protein ITPRID1 — Q6ZRS4 (reviewed: Q6ZRS4)

Alternative names: Coiled-coil domain-containing protein 129, ITPR-interacting domain-containing protein 1

All UniProt accessions (5): Q6ZRS4, A0A087WUB1, B8ZZ49, E7EQ43, E7ERG9

UniProt curated annotations — full annotation on UniProt →

Isoforms (4)

UniProt ID	Names	Canonical?
Q6ZRS4-1	1	yes
Q6ZRS4-2	2
Q6ZRS4-3	3
Q6ZRS4-4	4

RefSeq proteins (3): NP_001244896, NP_001244897, NP_919276 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029325	ITPR-bd	Domain
IPR029326	SSFA2_C	Domain
IPR043444	TESPA1-like	Family

Pfam: PF14722, PF14723

UniProt features (21 total): sequence variant 6, region of interest 4, splice variant 4, compositionally biased region 4, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZRS4-F1	47.04	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): GOMF_SIGNALING_RECEPTOR_BINDING, SALL4_TARGET_GENES, MIR4659A_3P_MIR4659B_3P, MIR6778_3P, MIR4742_5P, MIR2110, MIR496, MIR3149, MIR378A_5P, GSE11864_CSF1_PAM3CYS_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP, MIR4700_3P, MIR212_5P, MIR1267, MIR4286, MIR3132

GO Biological Process (0):

GO Molecular Function (1): signaling receptor binding (GO:0005102)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1

Protein interactions and networks

STRING

320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITPRID1	C1orf141	Q5JVX7	576
ITPRID1	ZMAT4	Q9H898	509
ITPRID1	LRRIQ1	Q96JM4	461
ITPRID1	OR4N2	Q8NGD1	445
ITPRID1	ZNF135	P52742	372
ITPRID1	SLFN14	P0C7P3	368
ITPRID1	PIGL	Q9Y2B2	364
ITPRID1	PHACTR4	Q8IZ21	353
ITPRID1	LCE3E	Q5T5B0	349
ITPRID1	TARBP1	Q13395	348
ITPRID1	AP5B1	Q2VPB7	348
ITPRID1	SLC44A3	Q8N4M1	339
ITPRID1	VPS13C	Q709C8	338
ITPRID1	PCDHB7	Q9Y5E2	334
ITPRID1	H2AC14	Q99878	325

IntAct

0 interactions, top by confidence:

BioGRID (2): CCDC129 (Synthetic Lethality), CCDC129 (Affinity Capture-MS)

ESM2 similar proteins: A0AUZ9, A0JMF7, A1L2Y1, A3KMW7, A8MT70, A8MW92, A9JRX0, B0CM36, B0S6S9, B7ZS37, D3Z987, F1QB81, O95447, P40649, Q0IHW6, Q0P5X5, Q14B48, Q15468, Q3U285, Q3V089, Q49A88, Q4R815, Q4V9H5, Q5CZC0, Q5DTI6, Q5REF4, Q5T1N1, Q5ZJK5, Q66H35, Q6NRH7, Q6NRK3, Q6ZRS4, Q6ZU52, Q80VP2, Q80WQ8, Q8BLG0, Q8CB14, Q8CCJ9, Q8IUR6, Q8IX21

Diamond homologs: A2RU30, P28290, Q14B48, Q3U132, Q6ZRS4, Q922B9, Q5REU9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

165 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	145
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2535 predictions. Top by Δscore:

Variant	Effect	Δscore
7:31549493:A:G	donor_gain	1.0000
7:31554467:A:AG	acceptor_gain	1.0000
7:31554470:TGTAG:T	acceptor_loss	1.0000
7:31554471:GTAGA:G	acceptor_loss	1.0000
7:31554473:A:AC	acceptor_loss	1.0000
7:31554473:A:AG	acceptor_gain	1.0000
7:31554474:G:GG	acceptor_gain	1.0000
7:31554474:GA:G	acceptor_gain	1.0000
7:31554474:GAA:G	acceptor_gain	1.0000
7:31554474:GAAGA:G	acceptor_gain	1.0000
7:31554519:TTCTT:T	donor_gain	1.0000
7:31554520:TCTT:T	donor_gain	1.0000
7:31554521:CTT:C	donor_gain	1.0000
7:31554522:TT:T	donor_gain	1.0000
7:31554524:G:GA	donor_loss	1.0000
7:31554524:G:GG	donor_gain	1.0000
7:31554525:T:TC	donor_loss	1.0000
7:31554855:CAGTG:C	acceptor_loss	1.0000
7:31554856:A:AG	acceptor_gain	1.0000
7:31554856:A:C	acceptor_loss	1.0000
7:31554856:AGT:A	acceptor_gain	1.0000
7:31554857:G:GT	acceptor_gain	1.0000
7:31554857:GT:G	acceptor_gain	1.0000
7:31554857:GTG:G	acceptor_gain	1.0000
7:31554857:GTGT:G	acceptor_gain	1.0000
7:31574537:CAG:C	acceptor_loss	1.0000
7:31574538:A:AC	acceptor_loss	1.0000
7:31574538:A:AG	acceptor_gain	1.0000
7:31574539:G:GG	acceptor_gain	1.0000
7:31574539:GC:G	acceptor_gain	1.0000

AlphaMissense

6952 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:31574601:T:C	F153L	0.989
7:31574603:T:A	F153L	0.989
7:31574603:T:G	F153L	0.989
7:31574646:T:C	F168L	0.985
7:31574648:C:A	F168L	0.985
7:31574648:C:G	F168L	0.985
7:31642214:A:C	S423R	0.981
7:31642216:C:A	S423R	0.981
7:31642216:C:G	S423R	0.981
7:31574691:T:C	F183L	0.980
7:31574693:T:A	F183L	0.980
7:31574693:T:G	F183L	0.980
7:31642223:T:C	F426L	0.980
7:31642225:C:A	F426L	0.980
7:31642225:C:G	F426L	0.980
7:31578420:T:C	F386L	0.975
7:31578422:T:A	F386L	0.975
7:31578422:T:G	F386L	0.975
7:31574602:T:C	F153S	0.972
7:31574647:T:C	F168S	0.972
7:31574692:T:C	F183S	0.971
7:31574700:G:C	A186P	0.970
7:31574713:G:C	R190P	0.966
7:31642217:A:C	S424R	0.965
7:31642219:C:A	S424R	0.965
7:31642219:C:G	S424R	0.965
7:31574550:T:A	W136R	0.962
7:31574550:T:C	W136R	0.962
7:31583140:A:C	S393R	0.962
7:31583142:C:A	S393R	0.962

dbSNP variants (sampled 300 via entrez): RS1000000470 (7:31588046 T>C,G), RS1000031480 (7:31588248 G>A,C), RS1000049347 (7:31545608 A>G), RS1000056238 (7:31538684 A>T), RS1000104086 (7:31625305 A>C), RS1000129352 (7:31537779 C>G), RS1000156672 (7:31572533 T>C), RS1000171175 (7:31614649 T>A,C), RS1000239756 (7:31563177 T>C), RS1000255345 (7:31620880 A>C), RS1000271613 (7:31619767 G>A), RS1000308270 (7:31608338 T>A,C), RS1000331640 (7:31531760 A>G), RS1000355760 (7:31575037 C>G), RS1000359912 (7:31608139 T>A,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008479_10	Psoriasis	2.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	decreases phosphorylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation	1
Arsenic	affects methylation	1
Copper	affects cotreatment, decreases expression	1
Nickel	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.